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Start free with EleplanAtelosteogenesis type I
ORPHA:1190Malformation syndrome
Also called AO1 · AOI · Atelosteogenesis type 1 · Giant cell chondrodysplasia · Spondylo-humero-femoral dysplasia
What it is
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
13Sometimes5–29%
19- Abnormal pancreatic duct morphology
- Cleft palate
- Enlarged cisterna magna
- Hypertelorism
- Joint dislocation
- Laryngeal stenosis
- Laryngotracheal stenosis
- Low-set ears
and 11 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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